Varaico: Literature-Extracted Genetic Variants

HECW1

7p14.1-p13 (UCSC)OMIM GTEx

181 papers

Pfam Domains

HECW_Naa 65–184UCSCN-terminal domain of E3 ubiquitin-protein ligase HECW1 and 2

C2aa 207–318UCSCC2 domain

WWaa 831–860UCSCWW domain

HECW1_helixaa 948–1014UCSCHelical box domain of E3 ubiquitin-protein ligase HECW1

Gene Aliases

HGNC Name

HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1

HGNC Alias Symbols

KIAA0322; NEDL1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 230 variants

5 papers

NM_015052.5

p.N1265S

c.3794A>G

3 papers

NM_015052.5

p.G404R

c.1210G>C

2 papers

NM_015052.5

p.A243T

c.727G>A

2 papers

NM_015052.5

p.S495R

c.1483A>C

2 papers

NM_015052.5

p.S495R

c.1485C>A

2 papers

NM_015052.5

p.S495R

c.1485C>G

2 papers

NM_015052.5

p.G551R

c.1651G>A

2 papers

NM_015052.5

p.G551R

c.1651G>C

2 papers

NM_015052.5

p.A774V

c.2321C>T

2 papers

NM_015052.5

p.R859H

c.2576G>A

2 papers

NM_015052.5

p.Q927K

c.2779C>A

2 papers

NM_015052.5

p.R1461C

c.4381C>T